clinical experience with eliglustat in children with gaucher disease type 1

Original title: “Clinical Experience With Eliglustat in Children With Gaucher Disease Type 1.”

paediatric gaucher disease type 1 diagnostic challenges in presence of hepatosplenomegaly and pancytopenia

Original title: “[Paediatric Gaucher disease type 1: diagnostic challenges in presence of hepatosplenomegaly and pancytopenia].”

left ventricular global longitudinal strain as an early predictor of disease severity progression in gaucher disease type 1

Original title: “Left Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1.”

In observance of Rare Disease Day, held annually on February 28, catch up on some of the latest data updates from clinical trials for rare diseases. In observance of Rare Disease Day, held annually on February 28, catch up on some of the latest data updates from clinical trials for rare diseases. ... Over the past few weeks, CGTLive has covered news and updates from clinical trials of cell and gene therapies in development for patients with a number of rare diseases, including data that were presented at AVROBIO’s AVR-RD-02, an investigational hematopoietic stem cell (HSC) gene therapy, has demonstrated sustained improvements in a 12-year-old male patient with type 3 Gaucher disease.5 Following myeloablative conditioning with busulfan, the patient received AVR-RD-02, which is comprised of autologous CD34+ cells that have been modified ex-vivo to express functional glucocerebrosidase, the disease-targeted enzyme, in 2 infusions lots. All patients achieved hematological recovery, stable engraftment, and restoration of arylsulfatase A enzyme to normal or supranormal levels by 3 months in peripheral blood mononuclear cells and by 3 to 12 months in cerebrospinal fluid. FBX-101 (Forge Biologics) gene therapy restored galactocerebrosidase (GALC) activity and supported normal white matter development in the first 2 patients with infantile Krabbe disease dosed in the phase 1/2 RESKUE clinical trial (NCT04693598).7 Efficacy signals included GALC levels 174-fold above normal controls in plasma and 3-to-10 fold above normal in cerebrospinal fluid. For Rare Disease Day, which is observed annually on February 28, the CGTLive team has gathered some of the latest updates on rare disease research below: Passage Bio’s PBGM01, an investigational adeno-associated virus (AAV) vector-based gene therapy currently being evaluated in the phase 1/2 Imagine-01 clinical trial (NCT04713475) for the treatment of infantile GM1 gangliosidosis, was shown to have a favorable safety profile and demonstrated dose-dependent changes in biomarkers.1 PBGM01 is intended to provide a functional copy of GLB1, the disease-targeted gene, via AAVhu68, and is administered to the central nervous system (CNS) with an intra-cisterna magna injection.

Original title: “Latest News in Gene Therapy for Rare Disease Day 2023 | CGTlive®”

In observance of Rare Disease Day, held annually on February 28, catch up on some of the latest data updates from clinical trials for rare diseases. In observance of Rare Disease Day, held annually on February 28, catch up on some of the latest data updates from clinical trials for rare diseases. ... Over the past few weeks, CGTLive has covered news and updates from clinical trials of cell and gene therapies in development for patients with a number of rare diseases, including data that were presented at AVROBIO’s AVR-RD-02, an investigational hematopoietic stem cell (HSC) gene therapy, has demonstrated sustained improvements in a 12-year-old male patient with type 3 Gaucher disease.5 Following myeloablative conditioning with busulfan, the patient received AVR-RD-02, which is comprised of autologous CD34+ cells that have been modified ex-vivo to express functional glucocerebrosidase, the disease-targeted enzyme, in 2 infusions lots. All patients achieved hematological recovery, stable engraftment, and restoration of arylsulfatase A enzyme to normal or supranormal levels by 3 months in peripheral blood mononuclear cells and by 3 to 12 months in cerebrospinal fluid. FBX-101 (Forge Biologics) gene therapy restored galactocerebrosidase (GALC) activity and supported normal white matter development in the first 2 patients with infantile Krabbe disease dosed in the phase 1/2 RESKUE clinical trial (NCT04693598).7 Efficacy signals included GALC levels 174-fold above normal controls in plasma and 3-to-10 fold above normal in cerebrospinal fluid. For Rare Disease Day, which is observed annually on February 28, the CGTLive team has gathered some of the latest updates on rare disease research below: Passage Bio’s PBGM01, an investigational adeno-associated virus (AAV) vector-based gene therapy currently being evaluated in the phase 1/2 Imagine-01 clinical trial (NCT04713475) for the treatment of infantile GM1 gangliosidosis, was shown to have a favorable safety profile and demonstrated dose-dependent changes in biomarkers.1 PBGM01 is intended to provide a functional copy of GLB1, the disease-targeted gene, via AAVhu68, and is administered to the central nervous system (CNS) with an intra-cisterna magna injection.

Original title: “Latest News in Gene Therapy for Rare Disease Day 2023 | CGTlive®”